716701004: Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)

\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

Descriptions:

Id Description Lang Type Status Case? Module

3307251014 Epidermolysis bullosa simplex with pyloric atresia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307254018 Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307255017 Epidermolysis bullosa simplex co-occurrent with pyloric atresia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307252019 A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3307253012 A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3874291000052111 epidermolysis bullosa simplex med pylorusatresi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epidermolysis bullosa simplex with pyloric atresia	Is a	Pyloric atresia	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Epidermolysis bullosa simplex	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Connective tissue structure	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Congenital atresia	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Pyloric structure of stomach	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Epidermolysis	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Pyloric structure of stomach	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Is a	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3307251014	Epidermolysis bullosa simplex with pyloric atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307254018	Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307255017	Epidermolysis bullosa simplex co-occurrent with pyloric atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307252019	A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307253012	A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3874291000052111	epidermolysis bullosa simplex med pylorusatresi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)